90940 - Clinical Laboratory Diagnostics

Academic Year 2021/2022

  • Moduli: Marianna Penzo (Modulo 1) Lorenzo Montanaro (Modulo 2) Lorenzo Montanaro (Modulo 3)
  • Teaching Mode: Traditional lectures (Modulo 1) Traditional lectures (Modulo 2) Traditional lectures (Modulo 3)
  • Campus: Bologna
  • Corso: Second cycle degree programme (LM) in Medical Biotechnology (cod. 9081)

Learning outcomes

Describe the theoretical and methodological bases of cytology, cytopathology, immunohematology and genetic pathology. Discuss the application of cellular and molecular methodological approaches to the diagnostic process in human pathology. Interpret the results of diagnostic laboratory tests for the characterisation of major human disorders.

Course contents

(Module 1)

PRINCIPLES OF LABORATORY DATA INTERPRETATION

Diagnostic and biological variability, precision and accuracy, sensitivity and specificity, errors and methodology controls in laboratory clinical tests; reference intervals.

NEONATAL SCREENING

Principles and main application for phenylketonuria, congenital hypothyroidism, galactosemia, cystic fibrosis, widened screening.

The Clinical Laboratory in HAEMATOLOGY

Haematopoiesis; erythrocytes: physiology and pathology (anemias; haemoglobinopathies), platelets and red blood cells; definition and evaluation of: haematocrit, MCV, MCH, MCHC, RDW, reticolocytes count. Lab parameters for the diagnosis of anemias. Lab parameters for the evaluation of iron metabolism, transferrin, sideremia.

LABORATORY EVALUATION OF KIDNEY FUNCTIONALITY

Urine analysis: physical, chemical and sediment examination. Kidney functionality markers: creatinin, creatinin clearance, azotaemia, uric acid, electrolytes.

LABORATORY EVALUATION OF LIVER FUNCTIONALITY

Basic tests for the assessment of liver function: markers of cholestasis, protein synthesis and cytolysis.

GENETIC TESTING

Biochemical techniques (for cistic fibrosis, phenilketonuria, thalassemias), Molecular techniques:Indirect genetic tests (length polymorphisms, SNP); Direct genetic tests (known mutations search, unknown mutations search). Diagnostic applications, NGS, panels/clinical exome. NIPT (non invasive prenatal testing).

LIQUID BIOPSY AND CIRCULATING TUMOR MATERIAL SEARCH: CELLS, DNA, RNA

(Module 2)

- The diagnostic laboratory in the evaluation of haemostatic function. Laboratory tests for the evaluation of platelet function, of the plasma coagulation phase and of the fibrinolytic system; laboratory tests for the definition of hypercoagulability. Physiopathology of disseminated intravascular coagulation (DIC); markers of activation of the coagulation system; markers of activation of the fibrinolytic system; markers of consumption of coagulation factors.

- Serum proteins. Electrophoretic separation of serum proteins; electrophoretic profiles associated with specific disorders; acute phase proteins and erythrocyte sedimentation rate (ESR). Serum proteins index of inflammation.

- Transfusion medicine. Blood type determination. The pre-transfusion tests. Complications of transfusions. Molecular tests in transfusion medicine.


Readings/Bibliography

Laboratory Medicine Diagnosis of Disease in Clinical Laboratory - Michael Laposata. McGraw-Hill, 2014.
ISBN 9780071805544

Teaching methods

Frontal classes, discussion of clinical cases. Teaching laboratories.

Assessment methods

Final evaluation will be performed by means of a joint test on all topics covered in the integrated course. The test will be based on 40 multiple choice questions (4 available aswers, only one is correct). In general, the number of questions included in the test from each different teaching module will be proportional to the number of credits of teaching. The exam is passed (score 18) when at least 22 questions are correctly answered. When all the questions are answered correctly the final score will be 30, with honours

Teaching tools

The slides shown during the lessons will be made available to Insegnamenti On Line. Access is reserved to Bologna University students.

Office hours

See the website of Lorenzo Montanaro

See the website of Marianna Penzo

SDGs

Good health and well-being

This teaching activity contributes to the achievement of the Sustainable Development Goals of the UN 2030 Agenda.